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Molecular investigation in Chinese patients with primary carnitine deficiency

BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation caused by mutations in the SLC22A5 that lead to low serum carnitine levels and decreased intracellular carnitine accumulation. Characteristic clinical findings are hypoketotic hypoglycemia a...

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Detalles Bibliográficos
Autores principales:	Zhang, Yanghui, Li, Haoxian, Liu, Jing, Yan, Huiming, Liu, Qin, Wei, Xianda, Xi, Hui, Jia, Zhengjun, Wu, Lingqian, Wang, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732302/ https://www.ncbi.nlm.nih.gov/pubmed/31364285 http://dx.doi.org/10.1002/mgg3.901

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